PAX3

PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors. This gene plays a critical role in the formation of tissues and organs during embryonic development and is involved in the biology of several types of human cancer.

Function

PAX3 is a transcription factor, which means it helps control the activity of certain genes by binding to specific regions of DNA. This protein is critical for the formation of certain tissues during embryonic development. It is involved in the development of the nervous system, the formation of certain muscles, and the development of the eyes and ears.

Role in Disease

Mutations in the PAX3 gene are associated with Waardenburg syndrome type 1 and 3, which are characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. PAX3 gene mutations are also associated with craniofacial-deafness-hand syndrome, a condition characterized by abnormalities of the skull, face, hands, and hearing.

Role in Cancer

PAX3 is also implicated in the biology of several types of human cancer. It is frequently expressed in melanoma, a type of skin cancer, and is associated with the progression of this disease. PAX3 is also involved in the development of rhabdomyosarcoma, a type of cancer that develops from skeletal muscle cells.

See Also

• PAX genes
• Transcription factor
• Waardenburg syndrome
• Craniofacial-deafness-hand syndrome
• Melanoma
• Rhabdomyosarcoma

References

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